FaCD Online Syndrome Fact Sheet

Last updated: 03 Jul 2009

Name: Familial Cylindromatosis

Synonym: FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.

Mode of Inheritance: AD

Genes

CYLD, mapped to 16q12-q13

Tumor features

cylindromas of skin (malignant)
eccrine spiradenoma
membranous basal cell adenoma of the parotid glands
trichoepithelioma

Non-tumor features

milia

Comment

This condition is characterized by the appearance of multiple cylindromas (also known as Spiegler tumors) and trichoepitheliomas, predominantly in hairy regions, and in 90% of cases in the head and neck region. Other skin tumors have also been found: eccrine spiradenoma, trichofolliculoma and milia.[1-3]. Confluencing scalp tumors may look like a turban, hence the name turban tumor syndrome. Malignant degeneration of the tumors into a carcinosarcoma has been reported, but appears to be rare[1,10]. A subset of patients with cylindromatosis develop multiple membranous basal cell adenomas of the parotid glands[4;5;10-12]. Familial cylindromatosis may on occasion be clinically confused with tuberous sclerosis[6].

Germline mutations in the CYLD gene have been observed in families with Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma[7-9,13].

References

[1] Horvath G, Schneider I, Erdelyi J. Multiple familial cylindroma with trichoepithelioma. Eur J Dermatol 1994; 4:542-544.
[2] Gerretsen AL, Beemer FA, Deenstra W, Hennekam FAM, Van Vloten WA. Familial cutaneous cylindromas: Investigations in five generations of a family. J Am Acad Dermatol 1995; 33:199-206.
[3] Garat H, Loche F, Gorguet B, Rumeau H, Lamant L, Bazex J. Syndrome de Brooke-Spiegler. Ann Dermatol Venereol 1999; 126:513-517.
[4] Jungehulsing M, Wagner M, Damm M. Turban tumour with involvement of the parotid gland. J Laryng otol 1999; 113(8):779-783.
[5] Issing PR. [Bilateral basal cell adenoma of the parotid gland and miltiple cylindromas of the skin--is there a syndromal coincidence?]. Laryngorhinootologie 1999; 78(3):155-159.
[6] Verhoef S, Schrander-Stumpel CTRM, Vuzevski VD, Tempelaars A, Jansen LAJ, Malfeyt GAM, Ceelen TL, Lindhout D, Halley DJJ, van den Ouweland AMW. Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. J Med Genet 1998; 35:841-845.
[7] Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel CR, Beemer FA, van den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S, Wallace MR, Fenske C, Banerjee P, Oiso N, Chaggar R, Merrett S, Leonard N, Huber M, Hohl D, Chapman P, Burn J, Swift S, Smith A, Ashworth A, Stratton MR. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 2000; 25(2):160-165.
[8] Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. The Journal of investigative dermatology 2005; 124(5):919-20.
[9] Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clinical genetics 2006; 70(3):246-9.
[10] De Francesco V, Frattasio A, Pillon B, Stinco G, Scott CA, Trotter D, Patrone P. Carcinosarcoma arising in a patient with multiple cylindromas. The American Journal of dermatopathology 2005; 27(1):21-6.
[11] Kakagia D, Alexiadis G, Kiziridou A, Lambropoulou M. Brooke-Spiegler syndrome with parotid gland involvement. Eur J Dermatol. 2004 May-Jun;14(3):139-41.
[12] Scott AR, Faquin WC, Deschler DG. Parotid mass in a woman with multiple cutaneous cylindromas. Head Neck. 2009 May 19. [Epub ahead of print]
[13] Saggar S, Chernoff KA, Lodha S, Horev L, Kohl S, Honjo RS, Brandt HR, Hartmann K, Celebi JT. CYLD mutations in familial skin appendage tumours. J Med Genet. 2008 May;45(5):298-302